Exercise Induced Collapse, EIC
Kodas: H672
Short description
Exercise-induced collapse (EIC) is an autosomal, recessive neuromuscular disorder.
General information
Exercise-induced collapse (EIC) is an autosomal, recessive neuromuscular disorder. The disorder is caused by a mutation in the dynamin 1 (DNMI1) gene, which causes an substitution in a highly conserved region of the protein. The dynamin 1 protein is functional in neurotransmission and synaptic vesicle endocytosis.
Specifications
| Breeds | Boykin Spaniel, Chesapeake Bay Retriever, Curly-coated retriever, Labrador Retriever, Pembroke Welsh Corgi |
|---|---|
| Gene | DNM1 |
| Chromosome | 9 |
| Mutation | c.767G>T |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | EIC |
Clinical features
Clinical features are characterised by muscle weakness and life-threatening collapse after intense excercise. Collapse episodes generally last for 10 minutes and the dogs fully recover mostly after 30 minutes. Occasionally are the symptoms fatal.
Additional information
This test is based on an association study.
References
Pubmed ID: 18806795
Year published: 2008
Omia ID: 1466
Omia variant ID:
Turnaround information
- 15 working days